Variant report

Variant	rs4654059
Chromosome Location	chr1:224814484-224814485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1002131	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10799586	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916644	0.83[EUR][1000 genomes]
rs10916645	0.83[EUR][1000 genomes]
rs10916647	0.83[EUR][1000 genomes]
rs10916648	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916649	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10916655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10916656	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12042245	0.85[EUR][1000 genomes]
rs12042501	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12044182	0.85[EUR][1000 genomes]
rs12044602	0.85[EUR][1000 genomes]
rs12046431	0.83[EUR][1000 genomes]
rs12047290	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12134248	0.83[EUR][1000 genomes]
rs12136356	0.80[EUR][1000 genomes]
rs12145617	0.84[AFR][1000 genomes]
rs1909442	0.96[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2050626	0.81[EUR][1000 genomes]
rs2050627	0.81[EUR][1000 genomes]
rs2173526	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2405312	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4653590	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4654048	0.83[EUR][1000 genomes]
rs4654050	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4654053	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4654054	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57674260	0.85[EUR][1000 genomes]
rs59391065	0.83[EUR][1000 genomes]
rs6426142	0.85[EUR][1000 genomes]
rs6667012	0.83[EUR][1000 genomes]
rs6681385	0.83[EUR][1000 genomes]
rs6696059	0.83[EUR][1000 genomes]
rs873691	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs883114	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9919286	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224809400-224815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224810400-224814600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:224810600-224814600	Enhancers	HSMM	muscle
5	chr1:224810600-224814800	Enhancers	Fetal Brain Male	brain
6	chr1:224810600-224814800	Enhancers	Osteobl	bone
7	chr1:224810800-224815600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
9	chr1:224812000-224814600	Genic enhancers	NHDF-Ad	bronchial
10	chr1:224812000-224814800	Genic enhancers	NHLF	lung
11	chr1:224812200-224814600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:224812200-224815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:224812400-224814600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr1:224812600-224819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:224812800-224815600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:224812800-224825200	Weak transcription	HMEC	breast
17	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:224813000-224820200	Weak transcription	Dnd41	blood
19	chr1:224813200-224814600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr1:224813400-224814600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:224813400-224816400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr1:224813600-224814600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:224813600-224814600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:224813600-224814600	Weak transcription	Pancreas	Pancrea
25	chr1:224813600-224816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:224814000-224814800	Enhancers	NH-A	brain
27	chr1:224814400-224817400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr1:224814400-224819400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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